Search for a rare disease
Other search option(s)
A very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
ORPHA:83Classification level: Disorder
It has been described in more than 30 patients.
Children present with characteristic facial features, including a large domed forehead, flat nose, and midface hypoplasia with proptosis and dysplastic ears. Arachnodactyly and/or camptodactyly have also been reported. A diverse range of malformations (cardiac, anal or vertebral) are often associated. Urogenital anomalies with sexual ambiguity due to impaired steroidogenesis can occur. Intellectual development is variable.
A similar clinical picture is observed in patients exposed in utero to fluconazole, a lanosterol 14 alpha-demethylase inhibitor.
Transmission is autosomal recessive.
Management and treatment
Treatment is symptomatic, and includes early neurosurgical as well as pulmonary management.
The prognosis is poor with the majority of reported patients dying during infancy due to respiratory complications.
- Clinical genetics review
- English (2017)